Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation.
Yalan WanChao ZhouXingzhi ChangLiwen WuYilei ZhengJiaxi YuLi BaiMingyue LuanMeng YuQi WangWei ZhangYun YuanJianwen DengZhaoxia WangPublished in: Journal of medical genetics (2024)
as well as tubulinopathies, and added a new type of congenital myopathy to be taken into consideration in the differential diagnosis.
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